title: A de novo X;3 translocation in Rett syndrome.
abstract: Rett syndrome is a neurodegenerative disorder that occurs exclusively in females. The syndrome is sporadic in most cases with the exception of a few familial cases with an inheritance pattern through maternal lines. These observations raised the possibility that Rett syndrome may be due to an X-linked dominant mutation which is lethal in the male. To evaluate this hypothesis, we have systematically performed high-resolution chromosome analysis on 28 patients with Rett syndrome searching for deletions and/or translocations. In one patient, a de novo balanced translocation was observed with the chromosome constitution of 46,X,t(X;3) (p22.11;q13.31). This finding supports the hypothesis of an X-linked dominant mutation and suggests that the Rett gene might map to distal Xp21 or proximal Xp22.
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: H Y
authors.initials: HY
authors.lastname: Zoghbi
authors.forename: D H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: R
authors.initials: R
authors.lastname: Schultz
authors.forename: A K
authors.initials: AK
authors.lastname: Percy
authors.forename: D G
authors.initials: DG
authors.lastname: Glaze
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D015518:Rett Syndrome / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome